Splicing of precursor mRNA is a crucial regulatory stage in the pathway of gene expression. Splicing of RNA is regulated by complicated mechanisms involving numerous RNA-binding proteins and the intricate network of interactions among them, increasing the opportunity for mutations and misregulation that cause disease. Therefore, Mutations in cis-acting splicing elements or mutations in the splicing machinery and the regulatory proteins that affect splicing could be very important to human disease.Defects in pre-mRNA splicing have emerged as a common disease-causing mechanism.

SpliceDisease is a database that collected and curated experimentally supported data of RNA Splicing mutation and disease. The RNA Splicing mutations include cis-acting mutations that disrupt splicing and trans-acting mutations that affecting RNA-dependent functions that cause disease . Information such as EntrezGeneID, gene genomic sequence, mutation (nucleotide substitutions, deletions and insertions ), mutation location within the gene, organism, detailed description of the splicing mutation and references are also given.

The users are able to

.browse the database
.search the database
.download all data in the database
.submit new entries to the database

Statistics:
SpliceDisease database integrated 2337 splicing mutation-disease entries including 303 genes, 370 human disease from 898 publications.

History:
Aug-9,2011, the original SpliceDisease database was released.

Contact:
Dr. Juan Wang
Department of Biomedical Informatics,
Peking University Health Science Center,
Beijing 100191, China
Email: wjuan@hsc.pku.edu.cn